5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
80 citations
,
December 1996 in “Pain” Disruption of glycinergic circuits increases pain sensitivity, suggesting new pain treatment options.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
2 citations
,
November 2006 in “Pump Industry Analyst” Pilomatricomas don't follow the usual hair follicle cell differentiation process.
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
5 citations
,
July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.